Defining a Clinical Data Ecosystem for Genomic Health
Event Details
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
In the future, it is likely that genetic testing will consist of one genetic test that can be used longitudinally in patient care — that is, whole genome sequencing — rather than many different orderable panels. This data could be accessible at point of care, leading to identification of patients whose treatments could change due to their genetic profiles (such as the use different pharmaceuticals, gene-based therapeutics, and preventive strategies) as well as real-time genetic diagnosis. This data could also lead to differences in reproductive decision-making as well as facilitate disease risk modeling and population health genomics.
Ideally, this genomic information would travel with the patient and the clinical use of it achieved through bioinformatics systems, enabling inexpensive and rapid utilization of genomic data. For example, advanced clinical decision support systems (CDSS) could leverage genomic data to enhance care and could be extended through the use of wearable technology. Artificial intelligence models could predict and adjust a patient’s health trajectory towards optimal outcomes.
This vision holds promise, but there is currently no data ecosystem in place to support such an endeavor. Thus, the goal of this workshop is to identify clinical informatics needs for enabling large-scale utilization of genomic sequence data in delivery of genomic healthcare and examine research that could address these needs.
Executive Summary (PDF)
Meeting Summary (PDF)
Printable Agenda (PDF)
Hybrid: Virtual and In-Person
The LINE DC Hotel
Objectives
The objectives of this meeting were to:
- Define data ecosystem outlining current and optimal paths of genomic data from lab to EHR to patient/clinician and across health systems
- Determine informatics standards to be adopted, systems to be built, policies to be developed
- Identify research directions for optimizing genomic data integration and utilization in delivery of healthcare
April 10
8:00 - 8:30 AM: Breakfast
8:30 – 9:15 AM: Introduction
Overview of the Current Issue and Objective
Nephi Walton
Open the Genome to All
Laura Duque Lasio
Chief Medical Information (CMIO) perspective
Kevin O'Bryan
9:15 - 10:45 AM: Real World Genomic Data in Clinical Care
Germline Mendelian Disease Data
Ian Campbell
Systematic Review of Genomic Clinical Decision Support
Darren Johnson
Pharmacogenomics Data / External Systems
Mark Dunnenberger
Informatics Challenges Open Discussion
Moderator: Travis Osterman
10:45 - 11:05 AM: Morning Break
11:05 AM - 12:50 PM: Real Time and Rapid Genetic Diagnosis
Real-Time Genetic Diagnosis at the Point of Care
Marc Williams
Expanding Rapid NICU Sequencing
Luca Brunelli
Rapid NICU Sequencing Infrastructure
Valerie Willis
Implementation Challenges Open Discussion
Moderator: Ken Wiley
12:50 - 1:20 PM: Working Lunch
1:20 - 3:00 PM: AI and Polygenic Risk Scores
Data Availability
Iftikhar Kullo
FHIR Genomics Operations
Bob Dolin
Maximizing Genomic Clinical Utility: Context and Learning
Pradeep Natarajan
Implementation Challenges Open Discussion
Moderator: Josh Peterson
3:00 - 3:20 PM: Break
3:20 – 4:50 PM: Delivering Genomics Information to Patients and Providers
Primary Care Perspective
Sharice Wood
Chatbots for Patient Outreach, Education, and Access to Genetic Testing
Guilherme Del Fiol
Implementation of Genomic Information Resources
Casey Overby Taylor
Implementation Challenges Open Discussion
Moderators: Alana Rahm and Juliann Savatt
4:50 - 5:00 PM: Closing Remarks
5:00 PM: Adjournment
April 11
8:00 - 8:30 AM: Breakfast
8:30 – 9:45 AM: Models for Genomic Data Sharing
Brief Day One Recap
John David Nolen
ACMG Points to Consider: Designated Record Set
Marc Williams
Models for Data Sharing
Bret Heale
Is PACS a Model for FHIR Genomics?
Srikar Chamala
Group Discussion
Moderator: John David Nolen
9:45 - 10:05 AM: Morning Break
10:05 - 11:50 AM: Model Design Workshop
Moderator: Bret Heale
11:50 AM - 12:20 PM: Working Lunch
12:20 - 1:05 PM: Evaluating the Model: Data and Technical Standards
Group Discussion Moderators
Robert Freimuth and Robert Carroll
1:05 - 1:50 PM: Evaluating the Model: Governance, Legal, and Ethical Challenges
Group Discussion Moderators
Jorge Contreras, Kevin O’Bryan and Casey Overby Taylor
1:20 - 245 PM: Evaluating the Model: Sustainability
Group Discussion Moderators
Michael Murray, Kevin O’Bryan and Bryce Christensen
2:45 - 3:20 PM: Path Forward and Action Plans
Synthesis of Key Points from Discussions
Nephi Walton
Setting Priorities: Identifying the Most Critical Barriers
Nephi Walton
Closing Remarks and Future Collaboration
Nephi Walton
3:20 PM: Adjournment
Last updated: August 21, 2024